Mutagenetix > Incidental Mutations

Incidental Mutation 'R2103:Cat'

230653

Institutional Source

Beutler Lab

Gene Symbol

Cat

Ensembl Gene

ENSMUSG00000027187

Gene Name

catalase

Synonyms

Cas1, Cas-1, Cs-1

MMRRC Submission

040107-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103453849-103485160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103463315 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 389 (D389E)

Ref Sequence

ENSEMBL: ENSMUSP00000028610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028610] [ENSMUST00000111168]

Predicted Effect

probably damaging
Transcript: ENSMUST00000028610
AA Change: D389E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028610
Gene: ENSMUSG00000027187
AA Change: D389E

Domain	Start	End	E-Value	Type
Catalase	28	413	4.7e-285	SMART
Pfam:Catalase-rel	434	497	5.8e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111168

SMART Domains

Protein: ENSMUSP00000106798
Gene: ENSMUSG00000027187

Domain	Start	End	E-Value	Type
Catalase	28	176	2.33e-3	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	C	A	3: 60,039,814	P311Q	probably damaging	Het
Acoxl	T	A	2: 127,972,606	M314K	probably damaging	Het
Agmat	A	T	4: 141,755,903	D216V	probably damaging	Het
Aida	A	T	1: 183,313,692	E107D	probably benign	Het
Ano5	A	G	7: 51,537,813	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816	D95V	probably damaging	Het
Aspm	G	A	1: 139,491,665	V3023M	probably damaging	Het
Atg16l2	A	G	7: 101,290,361		probably null	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
B3galt5	A	T	16: 96,316,025	K286M	probably damaging	Het
Best3	A	C	10: 117,002,594	I186L	probably benign	Het
Blm	G	T	7: 80,505,949		probably null	Het
Cluh	C	A	11: 74,659,529	C222*	probably null	Het
Cntnap2	G	A	6: 47,298,588	E1325K	probably damaging	Het
Col14a1	A	T	15: 55,449,940	D1320V	unknown	Het
Col4a3bp	T	A	13: 96,634,886	N550K	probably damaging	Het
Cpne7	A	G	8: 123,127,437	K288E	possibly damaging	Het
Cyp26b1	A	G	6: 84,575,050	S369P	possibly damaging	Het
Cyp2j9	T	A	4: 96,571,964	K434M	probably damaging	Het
Dpyd	G	C	3: 119,064,952	S605T	probably benign	Het
Dst	A	G	1: 34,190,258	T1986A	probably benign	Het
Ebf2	T	A	14: 67,387,942	V233D	probably damaging	Het
Ecm2	A	G	13: 49,530,256	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560	C611*	probably null	Het
Epop	T	C	11: 97,628,654	T210A	probably benign	Het
Fdxacb1	A	T	9: 50,771,646	N101I	probably benign	Het
Fezf1	A	G	6: 23,247,332	F248S	possibly damaging	Het
Galnt16	A	G	12: 80,583,656	D262G	probably damaging	Het
Gm9507	T	A	10: 77,811,666		probably benign	Het
Grin2b	A	T	6: 135,780,140	I441N	probably benign	Het
H2-Eb2	A	G	17: 34,334,304	I155V	probably benign	Het
Hectd4	C	A	5: 121,355,629	D3811E	probably benign	Het
Herc4	T	C	10: 63,246,110	S71P	probably benign	Het
Hhipl1	A	G	12: 108,327,718	T628A	probably benign	Het
Hoga1	A	C	19: 42,060,020		probably null	Het
Igf2bp1	A	G	11: 95,975,296	V122A	probably damaging	Het
Il10ra	C	A	9: 45,255,811	A481S	probably benign	Het
Klk1b26	A	T	7: 44,016,900	T256S	probably damaging	Het
Kndc1	C	T	7: 139,921,234	T813I	probably benign	Het
Limch1	A	G	5: 66,998,729	K394R	probably benign	Het
Lrrc37a	T	C	11: 103,500,261	E1446G	probably benign	Het
Lrrc47	C	T	4: 154,015,893	R287W	probably damaging	Het
Mdn1	T	A	4: 32,738,712	L3555Q	possibly damaging	Het
Mei1	A	G	15: 82,103,204	H399R	possibly damaging	Het
Mei1	G	T	15: 82,107,036	V472F	probably damaging	Het
Mrps34	T	A	17: 24,895,490		probably null	Het
Myom3	A	G	4: 135,776,412	T391A	probably benign	Het
Nfib	G	A	4: 82,330,408	T314I	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502	V172A	possibly damaging	Het
Olfr459	A	G	6: 41,772,005	I98T	probably benign	Het
Olfr498	A	G	7: 108,465,603	N93S	probably benign	Het
Olfr774	T	C	10: 129,238,499	S117P	probably damaging	Het
Pdia3	G	C	2: 121,433,993	G346A	probably damaging	Het
Plce1	T	C	19: 38,777,924	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543	F4055L	probably damaging	Het
Ppip5k1	A	T	2: 121,321,653		probably null	Het
Psma6	T	C	12: 55,408,057	I57T	probably benign	Het
Psme2	A	T	14: 55,590,840		probably null	Het
Reln	A	T	5: 21,969,360	D1948E	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,579,906		probably benign	Het
Sbno1	G	T	5: 124,393,937	S727R	probably damaging	Het
Serpina3m	C	A	12: 104,389,699	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339	F304L	probably benign	Het
Slc4a5	A	C	6: 83,224,681	D4A	probably benign	Het
Slc4a5	G	A	6: 83,297,378	A1076T	probably benign	Het
Slpi	C	T	2: 164,355,543	C28Y	probably damaging	Het
Sptan1	T	C	2: 30,030,471	S2320P	probably damaging	Het
Stim2	A	G	5: 54,105,249	T278A	possibly damaging	Het
Sympk	T	A	7: 19,054,116	S1186T	probably benign	Het
Tbrg1	T	C	9: 37,649,419	D387G	probably benign	Het
Tns2	A	T	15: 102,112,665		probably null	Het
Tnxb	A	G	17: 34,682,251	Y1013C	probably damaging	Het
Tpsg1	T	C	17: 25,373,293	S41P	possibly damaging	Het
Trim36	T	C	18: 46,196,082	N85S	probably benign	Het
Trpm6	A	T	19: 18,796,284	H380L	probably benign	Het
Tssk4	A	G	14: 55,651,540	I174M	probably damaging	Het
Ttn	C	T	2: 76,946,391		probably null	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r4	T	A	3: 64,415,283	N5I	possibly damaging	Het
Vps11	G	A	9: 44,359,227	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468	T476A	possibly damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Vwf	G	A	6: 125,646,330	V1797I	probably benign	Het
Wasl	A	T	6: 24,618,378	S447T	unknown	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Zfp874a	T	A	13: 67,442,504	I354F	probably benign	Het

Other mutations in Cat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02989:Cat	APN	2	103472973	missense	probably damaging	1.00
PIT4696001:Cat	UTSW	2	103471812	missense	probably damaging	0.99
R1968:Cat	UTSW	2	103484989	missense	probably benign	0.01
R2655:Cat	UTSW	2	103471846	missense	probably damaging	1.00
R3037:Cat	UTSW	2	103467777	missense	probably benign	0.07
R5287:Cat	UTSW	2	103474360	missense	probably damaging	1.00
R5527:Cat	UTSW	2	103472973	missense	probably damaging	1.00
R5694:Cat	UTSW	2	103472994	missense	probably damaging	1.00
R6089:Cat	UTSW	2	103472951	missense	probably null	0.48
R6177:Cat	UTSW	2	103473075	missense	probably damaging	1.00
R6281:Cat	UTSW	2	103471769	missense	probably damaging	1.00
R6294:Cat	UTSW	2	103460295	missense	probably benign
R7058:Cat	UTSW	2	103474353	missense	probably benign	0.31
R7274:Cat	UTSW	2	103476890	missense	probably benign	0.07
R7347:Cat	UTSW	2	103463298	missense	probably benign
R7654:Cat	UTSW	2	103460364	missense	probably damaging	1.00
R7762:Cat	UTSW	2	103456858	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGCAGCTCAAAACTTCATAAC -3'
(R):5'- GCAGGGTTATGCAGTACTCATG -3'

Sequencing Primer
(F):5'- AGCTCAAAACTTCATAACAGAAGAG -3'
(R):5'- GTTATGTATTACTGTAGGGCC -3'

Posted On

2014-09-18